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Funding research to save patients’ kidneys from polycystic kidney disease

Polycystic kidney disease (PKD) is an inherited condition that causes small, fluid-filled cysts to form in the kidneys. The cysts grow, forming balloon-like swellings, enlarging the kidney and impairing its function. In the early stages there may be no symptoms and often symptoms won’t appear until adulthood, when some people have already had children and passed the genetic fault on.

Over time, people with PKD can develop high blood pressure – a major cause of heart attacks and strokes. PKD causes kidney scarring, which can lead to kidney failure and death at any age. Symptoms include fatigue, long-term pain and kidney failure, after which the only treatment is dialysis or a kidney transplant.

At the moment there is no cure, however, Kidney Research UK is hoping to change that.

How many people are affected by PKD?

In the UK about 70,000 adults and children are thought to have polycystic kidney disease. Worldwide, it affects upwards of 12 million individuals and accounts for around 10 per cent of patients on dialysis.

How is research helping?

In 2011 Dr Jill Norman received a grant of £173,000 to investigate how the rare kidney disease causes kidney scarring.

Dr Norman studied cells called fibroblasts – these are the cells that cause scar tissue in the kidneys of people with PKD. Interestingly, fibroblasts are found throughout your body and are critical in wound healing.

During her three-year research project, Dr Norman identified an enzyme that appeared to encourage the fibroblasts to produce scar tissue in the kidney. Once they had identified the enzyme, Jill and her team used kidney cells in the laboratory to see if they could inhibit the enzyme, which would mean that the team could look into creating a new treatment that could keep the kidneys working for longer.

The research found promising results that identified potential targets for treatment in patients. In addition, it resulted in better understanding of the biology of PKD, which allowed for Dr Norman and her team to differentiate those patients who will rapidly progress to end stage renal failure and need renal replacement therapy, from those with more indolent disease.

Dr David Wheeler and Dr Jill Norman
Dr David Wheeler and Dr Jill Norman

Reviewed April 2019

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